Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: NF1: Q282Q

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: NF1: 846G>A; rs138840528

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

European Journal Of Human Genetics : Ejhg

Ferrari, Luca L; Mangano, Eleonora E; Bonati, Maria Teresa MT; Monterosso, Ilaria I; Capitanio, Daniele D; Chiappori, Federica F; Brambilla, Ilaria I; Gelfi, Cecilia C; Battaglia, Cristina C; Bordoni, Roberta R; Riva, Paola P

Publication Date: 2020-10

Variant appearance in text: NF1: Q282Q; rs138840528

PubMed Link: 32514133

Variant Present in the following documents:

• 41431_2020_658_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: NF1: 846G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM5_ESM.xlsx, sheet 1
• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine

Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA

Publication Date: 2018-09

Variant appearance in text: NF1: Q282Q; rs138840528

PubMed Link: 30008175

Variant Present in the following documents:

• MGG3-6-749-s004.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: NF1: 846G>A; Gln282=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Development and Validation of an Ultradeep Next-Generation Sequencing Assay for Testing of Plasma Cell-Free DNA from Patients with Advanced Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Janku, Filip F; Zhang, Shile S; Waters, Jill J; Liu, Li L; Huang, Helen J HJ; Subbiah, Vivek V; Hong, David S DS; Karp, Daniel D DD; Fu, Siqing S; Cai, Xuyu X; Ramzanali, Nishma M NM; Madwani, Kiran K; Cabrilo, Goran G; Andrews, Debra L DL; Zhao, Yue Y; Javle, Milind M; Kopetz, E Scott ES; Luthra, Rajyalakshmi R; Kim, Hyunsung J HJ; Gnerre, Sante S; Satya, Ravi Vijaya RV; Chuang, Han-Yu HY; Kruglyak, Kristina M KM; Toung, Jonathan J; Zhao, Chen C; Shen, Richard R; Heymach, John V JV; Meric-Bernstam, Funda F; Mills, Gordon B GB; Fan, Jian-Bing JB; Salathia, Neeraj S NS

Publication Date: 2017-09-15

Variant appearance in text: NF1: 846G>A

PubMed Link: 28536309

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: NF1: 846G>A; rs138840528

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s2.xlsx, sheet 1
• ncomms12475-s3.xlsx, sheet 1

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: NF1: Q282Q

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 35

View BVdb publication page

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Comprehensive genomic analysis of a BRCA2 deficient human pancreatic cancer.

Plos One

Barber, Louise J LJ; Rosa Rosa, Juan M JM; Kozarewa, Iwanka I; Fenwick, Kerry K; Assiotis, Ioannis I; Mitsopoulos, Costas C; Sims, David D; Hakas, Jarle J; Zvelebil, Marketa M; Lord, Christopher J CJ; Ashworth, Alan A

Publication Date: 2011

Variant appearance in text: NF1: Q282Q

PubMed Link: 21750719

Variant Present in the following documents:

• pone.0021639.s007.xls, sheet 1

View BVdb publication page

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